Canonical Allele Identifier: CA354078010
Gene: HGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650792T>A , CM000665.2:g.120650792T>A GRCh38
NC_000003.11:g.120369639T>A , CM000665.1:g.120369639T>A GRCh37
NC_000003.10:g.121852329T>A NCBI36
NG_011957.1:g.36690A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.416A>T MANE Select ENSP00000283871.5:p.Asn139Ile
ENST00000283871.9:c.416A>T ENSP00000283871.5:p.Asn139Ile
ENST00000476082.2:c.293A>T ENSP00000419560.2:p.Asn98Ile
ENST00000485313.5:n.524A>T
ENST00000492108.5:c.47A>T ENSP00000419838.1:p.Asn16Ile
NM_000187.3:c.416A>T NP_000178.2:p.Asn139Ile
XM_005247412.1:c.416A>T XP_005247469.1:p.Asn139Ile
XM_005247413.1:c.416A>T XP_005247470.1:p.Asn139Ile
XM_005247414.3:c.416A>T XP_005247471.1:p.Asn139Ile
XM_011512746.1:c.416A>T XP_011511048.1:p.Asn139Ile
XM_005247412.2:c.416A>T XP_005247469.1:p.Asn139Ile
XM_005247413.2:c.416A>T XP_005247470.1:p.Asn139Ile
XM_005247414.5:c.416A>T XP_005247471.1:p.Asn139Ile
XM_011512746.2:c.416A>T XP_011511048.1:p.Asn139Ile
XM_017006277.2:c.-8A>T XP_016861766.1:n.-8A>T
NM_000187.4:c.416A>T MANE Select NP_000178.2:p.Asn139Ile